Canonical Allele Identifier: CA387594723

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24883312C>A , CM000675.2:g.24883312C>A GRCh38
NC_000013.10:g.25457450C>A , CM000675.1:g.25457450C>A GRCh37
NC_000013.9:g.24355450C>A NCBI36
NG_009165.2:g.44636G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.3882G>T (CENPJ) MANE Select ENSP00000371308.4:p.Gln1294His
ENST00000545981.6:c.*622G>T (CENPJ) ENSP00000441090.2:n.*622G>T
ENST00000381884.8:c.3882G>T (CENPJ) ENSP00000371308.4:p.Gln1294His
ENST00000545981.5:c.*623G>T (CENPJ) ENSP00000441090.2:n.*623G>T
ENST00000616936.4:c.*536G>T (CENPJ) ENSP00000477511.1:n.*536G>T
NM_018451.4:c.3882G>T (CENPJ) NP_060921.3:p.Gln1294His
NR_047594.1:n.4194G>T (CENPJ)
NR_047595.1:n.3992G>T (CENPJ)
XM_011535156.1:c.*10+4017C>A (RNF17) XP_011533458.1:n.*10+4017C>A
XM_011535156.2:c.*10+4017C>A (RNF17) XP_011533458.1:n.*10+4017C>A
NM_018451.5:c.3882G>T (CENPJ) MANE Select NP_060921.3:p.Gln1294His
NR_047594.2:n.4166G>T (CENPJ)
NR_047595.2:n.3964G>T (CENPJ)